1. Gene
  2. LDHD - lactate dehydrogenase D Gene

LDHD - lactate dehydrogenase D Gene

中文名称:乳酸脱氢酶 D

种属: Homo sapiens

同用名: DLD; DLACD

基因 ID: 197257 | 基因类型: protein coding

关于 LDHD

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,111,864-75,116,780 (from NCBI)

This gene has 4 transcripts (splice variants), 188 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 28.2), liver (RPKM 23.6) and 15 other tissues.

功能概要

该基因编码的蛋白质属于 D 异构体特异性 2-羟基酸脱氢酶家族。酵母中的类似蛋白质同时具有 D-乳酸和 D-甘油酸脱氢酶活性。选择性剪接发生在该位点,并且已经鉴定出编码不同亚型的两个转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

LDHD 基因产物(2)

mRNA Protein Name
NM_153486.4 NP_705690.2 probable D-lactate dehydrogenase, mitochondrial isoform 1 precursor
NM_194436.3 NP_919417.1 probable D-lactate dehydrogenase, mitochondrial isoform 2 precursor

LDHD 蛋白结构

FAD_binding_4

FAD_binding_4: FAD binding domain (66 - 202)

FAD-oxidase_C

FAD-oxidase_C: FAD linked oxidases, C-terminal domain (266 - 506)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 507 a.a.
蛋白主名 其他名称

probable D-lactate dehydrogenase, mitochondrial

D-lactate dehydrogenase

关联疾病

疾病名称 别名
D-Lactic Aciduria With Gout

DLACD

Uric Acid Concentration, Serum, Quantitative Trait Locus 7

Uaqtl7

Gout 5

Gout, Susceptibility To, 5

Gout5

D-Lactic Aciduria With Susceptibility To Gout

Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis

Cataract 6, Multiple Types

Ctpp1

Cataract 6 Multiple Types

CTRCT6

Cataract, Posterior Polar, 1

Arcc2

Cataract, Age-Related Cortical, 2

Ctpa

Ctpp

Age Related Cortical Cataract 2

Posterior Polar Cataract 1

Posterior Polar Cataract, 1

Age-Related Cortical Cataract 2

Cataract Posterior Polar 1

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus LDHD MGD MGI:106428
Bos taurus LDHD VGNC VGNC:30825
Rattus norvegicus LDHD RGD RGD:1308107
Felis catus LDHD VGNC VGNC:63209
Macaca mulatta LDHD VGNC VGNC:74084
Canis familiaris LDHD VGNC VGNC:42621